Linked Data
ClinVar Variation Id:
497131
dbSNP Id:
rs768425085
ExAC:
2:71753471 C / CGCAGAGT
gnomAD v2:
2-71753471-C-CGCAGAGT
gnomAD v3:
2-71526341-C-CGCAGAGT
gnomAD v4:
2-71526341-C-CGCAGAGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71526344_71526350dup , CM000664.2:g.71526344_71526350dup | GRCh38 |
| NC_000002.11:g.71753474_71753480dup , CM000664.1:g.71753474_71753480dup | GRCh37 |
| NC_000002.10:g.71606982_71606988dup | NCBI36 |
| NG_008694.1:g.77722_77728dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258104.8:c.1178_1180+4dup | ||
| ENST00000410020.8:c.1274_1276+4dup | ||
| ENST00000258104.7:c.1178_1180+4dup | ||
| ENST00000394120.6:c.1181_1183+4dup | ||
| ENST00000409366.5:c.1181_1183+4dup | ||
| ENST00000409582.7:c.1271_1273+4dup | ||
| ENST00000409651.5:c.1274_1276+4dup | ||
| ENST00000409744.5:c.1181_1183+4dup | ||
| ENST00000409762.5:c.1271_1273+4dup | ||
| ENST00000410020.7:c.1274_1276+4dup | ||
| ENST00000410041.1:c.1274_1276+4dup | ||
| ENST00000413539.6:c.1271_1273+4dup | ||
| ENST00000429174.6:c.1178_1180+4dup | ||
| NM_001130455.1:c.1181_1183+4dup | ||
| NM_001130976.1:c.1178_1180+4dup | ||
| NM_001130977.1:c.1178_1180+4dup | ||
| NM_001130978.1:c.1178_1180+4dup | ||
| NM_001130979.1:c.1271_1273+4dup | ||
| NM_001130980.1:c.1271_1273+4dup | ||
| NM_001130981.1:c.1271_1273+4dup | ||
| NM_001130982.1:c.1274_1276+4dup | ||
| NM_001130983.1:c.1181_1183+4dup | ||
| NM_001130984.1:c.1181_1183+4dup | ||
| NM_001130985.1:c.1274_1276+4dup | ||
| NM_001130986.1:c.1181_1183+4dup | ||
| NM_001130987.1:c.1274_1276+4dup | ||
| NM_003494.3:c.1178_1180+4dup | ||
| XM_005264584.3:c.1274_1276+4dup | ||
| XM_005264585.3:c.1271_1273+4dup | ||
| XM_005264584.4:c.1274_1276+4dup | ||
| XM_005264585.5:c.1271_1273+4dup | ||
| XR_001738969.1:n.1432_1434+4dup | ||
| NM_001130987.2:c.1274_1276+4dup | ||
| NM_001130455.2:c.1181_1183+4dup | ||
| NM_001130976.2:c.1178_1180+4dup | ||
| NM_001130977.2:c.1178_1180+4dup | ||
| NM_001130978.2:c.1178_1180+4dup | ||
| NM_001130979.2:c.1271_1273+4dup | ||
| NM_001130980.2:c.1271_1273+4dup | ||
| NM_001130981.2:c.1271_1273+4dup | ||
| NM_001130982.2:c.1274_1276+4dup | ||
| NM_001130983.2:c.1181_1183+4dup | ||
| NM_001130984.2:c.1181_1183+4dup | ||
| NM_001130985.2:c.1274_1276+4dup | ||
| NM_001130986.2:c.1181_1183+4dup | ||
| NM_003494.4:c.1178_1180+4dup |